Autism snps

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Using Promethease

rs1858830 CC 2xrisk of autism
rs4307059 TT 1.42x risk of autism
rs6807362 CC increased risk of autism
rs1143674 AG 1.3x risk of autism
rs3923890 AA lower social interaction.Increased risk of autism.
rs167771 possibly more insistence on sameness
rs 7794745 AA normal risk of autism
rs2351299 GG normal risk of autism
rs10513025 TT normal risk of autism
rs 3819331 TT lowered risk of autism

Where the f**k did this come from?

Are these gene labels? This sounds too arbitrary.

Google told me it something to do with the MET gene

It might be obscure but this is a nice, neat reference. Thanks, firemonkey.

Is that Promethease's full studied list, though, or your actual, own genotype? SNPedia won't open for me at the moment. I suppose they aren't yours. Do you know your own variants (if these aren't all yours)? Not that I'm asking you to share that information! Just whether you have it.

I'm due results quite soon.

SNPedia is down and apparently has been down for more than a week....
Promethease.com is down and apparently has been down for more than a week...

What's going on?

How can we get more inormation about these single nucleotide polymorphisms and the research behind the ASD related traits associated with them?

I was happy to see that 23andMe was back to $99 from the $199 it was earlier in the year.
Neither is really affordable at the moment, but $100 is easier to imagine squeezing into the budget than $200.

Those are my results after uploading my 23andMe raw data to Promethease.

SNPedia and promethease.com are loading for me.

They are both up now but were down 14 hours ago.

Thanks for sharing this information. It's fascinating.

rs167771 is an interesting one.

Oh, wow! I underestimated how many SNPs are already associated in theory. Then, I'd like to second Adamantium and thank you for sharing your own.

My own interest is also primarily in the raw data. Coincidentally, 23andme's UK price seems to have lately started to fluctuate weirdly (way out of line with USD/GBP). That is, it's currently rising.

1) Good luck reading this wall of text.
2) I've tagged-on the number of reference papers and population frequency of the genotype, which for me is "CEU - European - 180 samples of Utah residents with Northern and Western European ancestry from the CEPH collection (originally 30 mother-father-child trios)" If they're missing, it's because they aren't given.
NC = No Call / Not on chip
(I've underlined where the allele matches yours, firemonkey )

rs1858830 CC 2xrisk of autism; 7 References
rs4307059 CT 1.19x risk of autism; 49.6% Frequency; 9 Ref.
rs6807362 CC increased autism risk; 29.2% Freq.
rs1143674 AG 1.3x increased autism risk
(rs3923890 NC) - I dug out the other SNPs from the paper this one is from:

rs167771 AG The risk allele is behind a paywall! 28.3% Freq; 9 Ref.
rs7794745 AT slightly increased risk for autism; 41.6% Freq.
rs2351299 GG normal risk of autism; 70.3% Freq.
rs10513025 TT normal risk of autism; 92% Freq.
rs3819331 CT increased risk of autism; 29.2% Freq.

+

rs1801133 TT increased risk of autism; 8.8% Freq; 228 Ref.
homozygous for C677T of MTHFR = 10-20% efficiency in processing folic acid = high homocysteine, low B12 and folate levels
"Total of thirteen studies were found suitable for the inclusion in the present meta-analysis, which comprises 1978 cases and 7257 controls. Meta-analysis using all four genetic models showed significant association between C677T polymorphism and autism... In total 13 studies, 9 studies were from Caucasian population and 4 studies were from Asian population. The association between C677T polymorphism and autism was significant in Caucasian ... and Asian populations ..."

rs6716901 AG increased risk of AS? 26.5% Freq.
In a study size of 117 Caucasians with Asperger syndrome and 426 controls...found association of this SNP's minor allele (A) in SLC25A12 gene with Asperger syndrome.

rs2237717 TT reduced abilities related to neurocognition and ability to recognize faces; 23.4% Freq; 5 Ref.
(major: C, minor: T) is located in intron 11 within the MET proto-oncogene ... MET has also been shown to have roles in general neurodevelopment and in the development of autism; has been linked to schizophrenia, ability to recognize facial emotion, and chronic rhinosinusitis.

rs53576 AA Reduced empathy?
A silent G to A change in the oxytocin receptor (OXTR) gene. Studies have demonstrated that individuals with the G allele are more empathetic, feel less lonely, employ more sensitive parenting techniques, and have lower rates of autism.
However,"This study found that there is no association between rs53576 variants and the risk of autism in Caucasian children and adolescents."



Also, if you have a totally insatiable interest, I came across this monster database from Peking University Bioinformatics Centre.

rs7925879 AA Increased risk?
rs3802905 CC Increased risk?
rs6590109 GG Increased risk?


rs1801133 GG lowered risk?
rs6716901 GG lowered risk?
rs2237717 TT reduced ability to recognise faces
rs53576 AA reduced empathy?

Remarkably homozygous! It's fascinating.
There are bound to be several other members who have this data, perhaps for genealogy, who just haven't yet tried it vs Promethease.

rs1801133(T;T) - homozygous for C677T of MTHFR
rs4307059(T;T) - 1.42x risk of Autism Worse cell adhesion in neurons.
rs7794745(A;T)- slightly increased risk for autism
rs6807362(C;C) - increased autism risk
rs1858830(C;C) - 2x risk of autism The C allele appears to increase risk of autism by an odds ratio of perhaps 1.8
rs2710102(C;C) - higher risk of speech development delay and/or impairment

rs4307059(T;T)
1.42x risk of Autism Worse cell adhesion in neurons.

rs53576(A;G)
Lack of empathy?

rs2710102(T;T)
Delayed childhood speech.

rs2237717(T;T)
reduced abilities related to neurocognition and ability to recognize faces

I have all these at max magnitude. There are a lot of other SNPs with max magnitudes of 1 but they are insignificant.

I'm currently waiting for an assessment, but am pretty sure I'm an Aspie. Didn't realise though until I took the AQ50 via the UKs embarrassing bodies website. Didn't expect the result, but after researching Aspergers, the last 40 years make sense now!

I suppose I've learnt to emulate NT behaviour so well over the years that I had fooled myself.

How's that for a first post?